Deafness, Autosomal Recessive 55

Clinical Features

Irshad et al. (2005) reported a consanguineous Pakistani family with nonsyndromic deafness segregating as an autosomal recessive trait. Affected members of the family had prelingual profound deafness involving all frequencies.

Mapping

By linkage analysis, Irshad et al. (2005) mapped the nonsyndromic deafness phenotype in a consanguineous Pakistani family to chromosome 4q12-q13.2. A maximum multipoint lod score of 3.5 was obtained at marker D4S2638, and an 8.2-cM (11.5-Mb) region of homozygosity was flanked by markers D4S2978 and D4S2367. Irshad et al. (2005) noted that this locus is within the genetic interval for the DFNA27 locus (612431), which maps between D4S428 and D4S392. By sequence analysis, Irshad et al. (2005) detected no functional mutations in the candidate genes EPHA5 (600004) or REST (600571).